Canonical Allele Identifier: CA591377560

Gene: ABO

Linked Data

• dbSNP Id: rs1564303273
• gnomAD v2: 9-136130769-CTGTGTCTTTCTGTGTGTGTCTGTGTATGTAATGGTGTCTCTGTGGCGGGGAGGGTGTGTGTGTGATTTTGTGTCTGTG-C
• gnomAD v3: 9-133255382-CTGTGTCTTTCTGTGTGTGTCTGTGTATGTAATGGTGTCTCTGTGGCGGGGAGGGTGTGTGTGTGATTTTGTGTCTGTG-C
• gnomAD v4: 9-133255382-CTGTGTCTTTCTGTGTGTGTCTGTGTATGTAATGGTGTCTCTGTGGCGGGGAGGGTGTGTGTGTGATTTTGTGTCTGTG-C
• MyVariant Identifiers: chr9:g.136130770_136130847del (hg19) ; chr9:g.133255383_133255460del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133255428_133255505del , CM000671.2:g.133255428_133255505del	GRCh38
NC_000009.11:g.136130815_136130892del , CM000671.1:g.136130815_136130892del	GRCh37
NC_000009.10:g.135120636_135120713del	NCBI36
NG_006669.1:g.22208_22285del
NG_006669.2:g.24756_24833del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000453660.4:n.1300_1377del
ENST00000647353.1:n.54-4308_54-4231del
ENST00000679909.1:c.28+19702_28+19779del	ENSP00000506089.1:n.28+19702_28+19779del
ENST00000453660.3:n.1282_1359del
ENST00000611156.4:c.*206_*283del	ENSP00000483265.1:n.*206_*283del
NM_020469.2:c.*206_*283del	NP_065202.2:n.*206_*283del
NM_020469.3:c.*206_*283del	NP_065202.2:n.*206_*283del